Publications:

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Nature Communications

Shen, Ying Y; Zhang, Feng F; Li, Fuping F; Jiang, Xiaohui X; Yang, Yihong Y; Li, Xiaoliang X; Li, Weiyu W; Wang, Xiang X; Cheng, Juan J; Liu, Mohan M; Zhang, Xueguang X; Yuan, Guiping G; Pei, Xue X; Cai, Kailai K; Hu, Fengyun F; Sun, Jianfeng J; Yan, Lanzhen L; Tang, Li L; Jiang, Chuan C; Tu, Wenling W; Xu, Jinyan J; Wu, Haojuan H; Kong, Weiqi W; Li, Shuying S; Wang, Ke K; Sheng, Kai K; Zhao, Xudong X; Yue, Huanxun H; Yang, Xiaoyu X; Xu, Wenming W

Publication Date: 2019-01-25

Variant appearance in text: KAT2A: N125K

PubMed Link: 30683861

Variant Present in the following documents:

• 41467_2018_8182_MOESM10_ESM.xls, sheet 1

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Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: KAT2A: N125K

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 2

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: KAT2A: N125K

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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